Gene Gene information from NCBI Gene database.
Entrez ID 10150
Gene name Muscleblind like splicing regulator 2
Gene symbol MBNL2
Synonyms (NCBI Gene)
MBLLMBLL39PRO2032
Chromosome 13
Chromosome location 13q32.1
Summary This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to
miRNA miRNA information provided by mirtarbase database.
432
miRTarBase ID miRNA Experiments Reference
MIRT001057 hsa-miR-218-5p qRT-PCRWestern blot 17998940
MIRT000093 hsa-miR-302d-3p Luciferase reporter assayMicroarray 19229866
MIRT000059 hsa-miR-372-3p Luciferase reporter assayMicroarray 19229866
MIRT017429 hsa-miR-335-5p Microarray 18185580
MIRT027297 hsa-miR-101-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607327 16746 ENSG00000139793
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VZF2
Protein name Muscleblind-like protein 2 (Muscleblind-like protein 1) (Muscleblind-like protein-like) (Muscleblind-like protein-like 39)
Protein function Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclus
PDB 2E5S , 2RPP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00642 zf-CCCH 16 40 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF14608 zf-CCCH_2 52 71 Domain
PF00642 zf-CCCH 177 203 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF14608 zf-CCCH_2 218 236 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11929853}.
Sequence
MALNVAPVRDTKWLTLEVCRQFQRGTCSRSDEECKFAHPPKSCQVENGRVIACFDSLKGR
CSRENCKYLHP
PTHLKTQLEINGRNNLIQQKTAAAMLAQQMQFMFPGTPLHPVPTFPVGP
AIGTNTAISFAPYLAPVTPGVGLVPTEILPTTPVIVPGSPPVTVPGSTATQKLLRTDKLE
VCREFQRGNCARGETDCRFAHPA
DSTMIDTSDNTVTVCMDYIKGRCMREKCKYFHPPAHL
QAKIKAAQHQANQAAVAAQAAAAAATVMAFPPGALHPLPKRQALEKSNGTSAVFNPSVLH
YQQALTSAQLQQHAAFIPTGSVLCMTPATSIDNSEIISRNGMECQESALRITKHCYCTYY
PVSSSIELPQTAC
Sequence length 373
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Abortion Habitual Associate 36439123
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Associate 32407311
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 29742422
★☆☆☆☆
Found in Text Mining only
Down Syndrome Associate 15716609
★☆☆☆☆
Found in Text Mining only
Fuchs' Endothelial Dystrophy Associate 28118661, 31560764
★☆☆☆☆
Found in Text Mining only
Hypoxia Stimulate 32127384
★☆☆☆☆
Found in Text Mining only
Keratoconus Associate 28159702
★☆☆☆☆
Found in Text Mining only
Muscular Diseases Associate 21179469
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy Duchenne Stimulate 19095965
★☆☆☆☆
Found in Text Mining only
Myotonic Dystrophy Associate 15546872, 19095965, 24440524, 25702800, 31116797, 32407311, 34312665, 34371182
★☆☆☆☆
Found in Text Mining only